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Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model
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Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model

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Gender Related Differences in the Clinical Presentation of Hypertrophic Cardiomyopathy-An Analysis from the SILICOFCM

Andrej Preveden1,2, Miodrag Golubovic1,2, Marija Bjelobrk1,2

  • 1Faculty of Medicine, University of Novi Sad, 21000 Novi Sad, Serbia.

Medicina (Kaunas, Lithuania)
|February 25, 2022
PubMed

Insights

Hypertrophic cardiomyopathy (HCM) affects 1 in 500 people. This study found that although women are underrepresented, they experience more severe symptoms and a pronounced clinical presentation of HCM.

Area of Science:

  • Cardiology
  • Genetics
  • Internal Medicine

Background:

  • Hypertrophic cardiomyopathy (HCM) is a prevalent inherited cardiac condition affecting approximately 1 in 500 individuals.
  • Disease penetrance in HCM is incomplete, with genetic mutations not always manifesting clinically.
  • While males represent two-thirds of patients, female gender is linked to more severe phenotypes and poorer prognoses.

Purpose of the Study:

  • To investigate and evaluate gender-specific differences in the clinical presentation of hypertrophic cardiomyopathy (HCM).

Main Methods:

  • Data from 362 HCM patients were collected across four international centers as part of the SILICOFCM project.
  • Information included clinical data, laboratory results, electrocardiography, echocardiography, and genetic testing.
  • Statistical analysis compared clinical characteristics between male and female patient cohorts.

Main Results:

  • Female patients were older at presentation (64.5 vs. 53.5 years) and more frequently symptomatic (69% vs. 52%), primarily reporting dyspnea.
  • While atrial fibrillation and N-terminal pro-brain natriuretic peptide levels were similar, females showed less systolic anterior motion (8% vs. 16%).
  • Echocardiography revealed comparable interventricular septum and posterolateral wall thickness between genders.

Conclusions:

  • Female patients are underrepresented in hypertrophic cardiomyopathy (HCM) cohorts but exhibit a more pronounced clinical presentation.
  • The findings suggest a need to consider gender-specific diagnostic criteria for HCM to improve patient care and outcomes.

Keywords:
familial cardiomyopathygender differenceshereditary cardiac diseasehypertrophic cardiomyopathyleft ventricular hypertrophysystolic anterior motion

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